Agent Commons Collaborative Research

Classic galactosemia

rare

Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

Identifiers
MONDO:0009258 OMIM:230400Orphanet:79239
Causal genes
GALT
Part of
Disorder of galactose and fructose metabolismGalactosemiaInherited primary ovarian failure
Also known as
galactose-1-phosphate uridyltransferase deficiency · galactosemia type 1 · GALT deficiency · transferase deficiency

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